Fleas are eurixenous ectoparasites that can parasitize different species of warm-blooded animals, including humans, with the possibility of causing irritation and blood spoliation. They are vectors responsible for the transmission of numerous pathogens and have a wide geographical distribution, more frequently in warm regions. Domestic animals (dogs and cats) are preferred hosts, but parasitism can also occur in wild hosts, with a greater variety of parasitic species and strong interaction between these siphonapters and their hosts.
View Article and Find Full Text PDFPrenatal ultrasound (US) detection of heterotaxy syndrome can be challenging, especially in identifying cardiovascular and associated anomalies. We present a new case of heterotaxy syndrome with anomalous systemic venous return (ASVR) fully displayed at autopsy. Left heterotaxy syndrome was diagnosed in a 19 weeks' of gestation fetus with right-sided stomach.
View Article and Find Full Text PDFExomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus.
View Article and Find Full Text PDFBackground: POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy.
Case Presentation: We describe a 74 years old man carrying POLG1 mutations presenting with strokes, myopathy and ragged red fibers with some atypical aspects for MELAS such as late onset, lack of cerebral calcification and presence of frontal and occipital MRI lesions better consistent with the POLG associated-encephalopathy spectrum.
Purpose: To confirm the central role of antenatal echocardiography and necropsy in the prenatal diagnosis of rare congenital heart defects.
Methods: A 33-year-old woman undergoing second trimester scan using 2D transabdominal and Doppler sonography.
Results: The echocardiographic examination showed, at the level of the four-chamber view, a predominant left ventricle with a rudimental right ventricle and a single artery emerging with failed visualization of the pulmonary trunk: a diagnosis of truncus arteriosus communis associated with tricuspid atresia and hypoplastic right heart was made.
Background: To study changes in umbilical vein (UV) blood flow velocity, diameter and blood flow volume in intrauterine growth retardation (IUGR) fetuses who die in utero (IUD-IUGR).
Methods: Twelve singleton IUGR fetuses who died in utero below 600 g were included. All cases had abnormal uterine and umbilical arteries PI.
This report describes an indirect identification method for Cryptococcus neoformans serotypes developed using combined restriction enzyme pattern analysis of two PCR-amplified portions of the capsule-associated genes CAP10 and CAP59. The method relies on the recognition of the sequence conformation of nine serotype-related polymorphic sites by the analysis of four restriction profiles. A 610 nucleotides long trait of the CAP10 gene was digested with the enzymes Sty I or Sal I and a 597 nucleotides long trait of the CAP59 gene was digested with the enzymes Sal I or EcoRV+PstI.
View Article and Find Full Text PDFBackground: Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects.
View Article and Find Full Text PDFSeveral in vitro studies with a new medical device (Myfungar) containing 0.5% of piroctone olamine (CAS 68890-66-4, octopirox) in a hydroxypropyl chitosan hydroalcoholic solution were performed. The chemical name of the active ingredient is 1-hydroxy-4-methyl-6 (2,4,4-trimethylpentyl)-2(1H)-pyridone; combination with 2-amino-ethanol (1:1).
View Article and Find Full Text PDFWe describe two families in which three fetuses had a de novo 6q imbalance and abnormal phenotypes. We determined the boundaries and the parental origin of the chromosomal alterations by segregation analysis using a panel of short tandem repeats (STRs) located on 6q. Cases 1 and 2 (family A) were two sibs with 6q imbalance involving different regions.
View Article and Find Full Text PDFRecent studies have suggested that monitoring the amount of HIV provirus in peripheral blood mononuclear cells (PBMCs) may be a useful end point for HAART where, in combination with plasma viral load, it provides additional information as to the possibility of virus eradication. In the present study, a modified version of the Cobas Amplicor HIV-1 Monitor test (CAHIM), currently used to quantify plasma viremia, have been evaluated to also measure the amount of proviral DNA in PBMCs. The analytical and clinical performance of the modified CAHIM test was assessed by quantifying different amounts of a standard HIV-DNA preparation obtained from the 8E5 cell line and by analysing 165 patients and controls samples.
View Article and Find Full Text PDFObjective: The purpose of this study was to evaluate the changes in the distribution of the umbilical venous blood flow to the liver and to the ductus venosus in intrauterine growth-restricted human fetuses in relationship with dilation of the ductal isthmic diameter.
Study Design: Umbilical venous flow, ductus venosus blood flow, and blood flow to the fetal liver were measured in 56 severely intrauterine growth-restricted fetuses with an abnormal pulsatility index of the umbilical artery and were compared with 137 normal control fetuses. Percentages of umbilical venous blood flow through the ductus venosus and to the fetal hepatic lobes were calculated.